Rs4124874

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Orientationminus
Make rs4124874(A;A)
Make rs4124874(A;C)
Make rs4124874(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position233757013
GeneUGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs4124874
Exacrs4124874
PheGenIrs4124874
nextbiors4124874
hapmaprs4124874
1000 genomesrs4124874
hgdprs4124874
ensemblrs4124874
gopubmedrs4124874
geneviewrs4124874
scholarrs4124874
googlers4124874
pharmgkbrs4124874
gwascentralrs4124874
openSNPrs4124874
23andMers4124874
23andMe allrs4124874
SNP Nexus

SNPshotrs4124874
SNPdbers4124874
MSV3drs4124874
GMAF0.4968
? (A;A) (A;C) (C;C) 28

The (C;C) genotype is linked to reduced UGT1A1 activity, and increased Bilirubin, except in people of African origin for whom the T allele is a risk factor for breast cancer.


[PMID 17424838] [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].

[PMID 17498780] The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers.

[PMID 18992148OA-icon.png] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

[PMID 19267064] [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].

[PMID 19482841OA-icon.png] Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.

[PMID 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.


GET Evidence
rs4124874
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.570312
summary



[PMID 24865931] Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates